19-51965015-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_021632.4(ZNF350):c.1438G>A(p.Ala480Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,614,028 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021632.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000147 AC: 37AN: 251174Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135740
GnomAD4 exome AF: 0.000170 AC: 249AN: 1461862Hom.: 1 Cov.: 33 AF XY: 0.000154 AC XY: 112AN XY: 727232
GnomAD4 genome AF: 0.000145 AC: 22AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1438G>A (p.A480T) alteration is located in exon 5 (coding exon 4) of the ZNF350 gene. This alteration results from a G to A substitution at nucleotide position 1438, causing the alanine (A) at amino acid position 480 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at